Literature DB >> 18094491

A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.

S Ichikawa1, E A Imel, M L Kreiter, X Yu, D S Mackenzie, A H Sorenson, R Goetz, M Mohammadi, K E White, M J Econs.   

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Year:  2007        PMID： 18094491

Source DB:  PubMed          Journal:  J Musculoskelet Neuronal Interact        ISSN： 1108-7161            Impact factor:   2.041


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  26 in total

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4.  Phenotypic and Genotypic Characterization and Treatment of a Cohort With Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome.

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6.  Parathyroid Hormone and Plasma Phosphate Are Predictors of Soluble α-Klotho Levels in Adults of European Descent.

Authors:  Nasser A Dhayat; Menno Pruijm; Belen Ponte; Daniel Ackermann; Alexander Benedikt Leichtle; Olivier Devuyst; Georg Ehret; Idris Guessous; Antoinette Pechère-Bertschi; Johanne Pastor; Pierre-Yves Martin; Michel Burnier; Georg-Martin Fiedler; Bruno Vogt; Orson W Moe; Murielle Bochud; Daniel G Fuster
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Review 7.  αKlotho-FGF23 interactions and their role in kidney disease: a molecular insight.

Authors:  Edward R Smith; Stephen G Holt; Tim D Hewitson
Journal:  Cell Mol Life Sci       Date:  2019-07-26       Impact factor: 9.261

8.  Biochemical and functional characterization of the klotho-VS polymorphism implicated in aging and disease risk.

Authors:  Tracey B Tucker Zhou; Gwendalyn D King; CiDi Chen; Carmela R Abraham
Journal:  J Biol Chem       Date:  2013-11-11       Impact factor: 5.157

9.  Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.

Authors:  Patrícia T Goldenstein; Precil D Neves; Bruno E Balbo; Rosilene M Elias; Alexandre C Pereira; Luiz F Onuchic; Harald Jüppner; Vanda Jorgetti; Hugo Abensur; Rosa Maria Moysés
Journal:  Am J Kidney Dis       Date:  2018-03-14       Impact factor: 8.860

10.  Infection and smoking are associated with decreased plasma concentration of the anti-aging protein, α-klotho.

Authors:  Jennifer Lam-Rachlin; Roberto Romero; Steven J Korzeniewski; Alyse G Schwartz; Piya Chaemsaithong; Edgar Hernandez-Andrade; Zhong Dong; Lami Yeo; Sonia S Hassan; Tinnakorn Chaiworapongsa
Journal:  J Perinat Med       Date:  2013-09-01       Impact factor: 1.901
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